Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000369075 [[121652222, 121652457], [121657938, 121658471], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693299], [121700097, 121701658]] [[121652294, 121652457], [121657938, 121658471], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693279]]
ENST00000543134 [[121652241, 121652457], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693299], [121700097, 121700246]] [[121652394, 121652457], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693279]]
ENST00000470478 [[121652256, 121652457], [121657755, 121657839]] None
ENST00000442952 [[121662318, 121662521], [121663595, 121664174]] [[121662318, 121662521], [121663595, 121663852]]
ENST00000446561 [[121662412, 121662521], [121663595, 121663789], [121671555, 121671676], [121674241, 121674331], [121675259, 121675327]] [[121662412, 121662521], [121663595, 121663789], [121671555, 121671676], [121674241, 121674331], [121675259, 121675327]]
ENST00000462222 [[121674011, 121674331], [121675259, 121675401], [121677347, 121677437]] None
ENST00000475542 [[121689156, 121689274], [121691644, 121691830], [121692516, 121692679], [121693197, 121693282]] None
ENST00000483890 [[121700692, 121700820], [121701685, 121702014]] None
NR_037771 [[121652084, 121652457], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693299], [121700097, 121704170]] None
NM_007190 [[121652084, 121652457], [121657938, 121658471], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693299], [121700097, 121704170]] [[121652294, 121652457], [121657938, 121658471], [121662310, 121662521], [121663595, 121663789], [121668552, 121668642], [121671555, 121671676], [121674241, 121674331], [121675259, 121675401], [121677347, 121677556], [121677904, 121678023], [121678955, 121679108], [121680400, 121680496], [121685547, 121685739], [121689118, 121689274], [121689840, 121689943], [121691644, 121691830], [121692516, 121692679], [121693197, 121693279]]
Promoter
Chrom Start End Description
chr10 121652104 121652115 CAGE_peak_3_at_SEC23IP_5end
chr10 121652124 121652136 CAGE_peak_4_at_SEC23IP_5end
chr10 121652192 121652203 CAGE_peak_2_at_SEC23IP_5end
chr10 121652204 121652286 CAGE_peak_1_at_SEC23IP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I119686 119686036 119689798 1.43 [{'connected_gene': 'BAG3', 'score': 23.35}, {'connected_gene': 'TIAL1', 'score': 17.07}, {'connected_gene': 'SEC23IP', 'score': 16.98}, {'connected_gene': 'RPL17P36', 'score': 16.11}, {'connected_gene': 'RPL21P16', 'score': 10.47}, {'connected_gene': 'TXNP1', 'score': 8.62}, {'connected_gene': 'INPP5F', 'score': 8.18}]
chr10 GH10I119650 119650584 119660678 2.72 [{'connected_gene': 'BAG3', 'score': 568.34}, {'connected_gene': 'TIAL1', 'score': 21.86}, {'connected_gene': 'SEC23IP', 'score': 20.53}, {'connected_gene': 'INPP5F', 'score': 11.7}, {'connected_gene': 'MCMBP', 'score': 10.82}, {'connected_gene': 'GRK5', 'score': 1.18}, {'connected_gene': 'TXNP1', 'score': 0.31}]
chr10 GH10I119078 119078210 119082192 2.26 [{'connected_gene': 'EIF3A', 'score': 550.77}, {'connected_gene': 'GC10P119080', 'score': 550.77}, {'connected_gene': 'TIAL1', 'score': 24.87}, {'connected_gene': 'SEC23IP', 'score': 23.99}, {'connected_gene': 'MCMBP', 'score': 21.83}, {'connected_gene': 'NANOS1', 'score': 9.97}, {'connected_gene': 'RN7SL749P', 'score': 4.76}, {'connected_gene': 'ENSG00000222588', 'score': 0.37}]
chr10 GH10I119871 119871000 119874233 2.01 [{'connected_gene': 'MCMBP', 'score': 563.16}, {'connected_gene': 'SEC23IP', 'score': 18.88}, {'connected_gene': 'TIAL1', 'score': 16.31}, {'connected_gene': 'WDR11', 'score': 9.76}, {'connected_gene': 'INPP5F', 'score': 8.57}, {'connected_gene': 'ENSG00000282413', 'score': 0.23}]
chr10 GH10I119891 119891514 119893918 2.08 [{'connected_gene': 'MCMBP', 'score': 557.71}, {'connected_gene': 'SEC23IP', 'score': 557.3}, {'connected_gene': 'INPP5F', 'score': 8.18}, {'connected_gene': 'MIR4682', 'score': 0.2}]
chr10 GH10I119279 119279226 119280589 0.62 [{'connected_gene': 'TIAL1', 'score': 17.39}, {'connected_gene': 'SEC23IP', 'score': 15.9}, {'connected_gene': 'MCMBP', 'score': 12.98}, {'connected_gene': 'RPL17P36', 'score': 10.76}, {'connected_gene': 'GC10P119246', 'score': 0.29}, {'connected_gene': 'LOC105378511', 'score': 0.22}, {'connected_gene': 'GRK5', 'score': 0.19}]
chr10 GH10I118947 118947201 118947600 0.85 [{'connected_gene': 'TIAL1', 'score': 16.94}, {'connected_gene': 'SEC23IP', 'score': 16.92}, {'connected_gene': 'RPL17P36', 'score': 16.28}, {'connected_gene': 'ENSG00000231104', 'score': 10.17}, {'connected_gene': 'LDHAP5', 'score': 0.39}, {'connected_gene': 'GC10P119001', 'score': 0.23}]
chr10 GH10I119219 119219503 119224252 1.21 [{'connected_gene': 'TIAL1', 'score': 31.78}, {'connected_gene': 'SEC23IP', 'score': 27.72}, {'connected_gene': 'SFXN4', 'score': 24.34}, {'connected_gene': 'RPL17P36', 'score': 19.04}, {'connected_gene': 'MCMBP', 'score': 14.29}, {'connected_gene': 'RN7SL749P', 'score': 0.44}, {'connected_gene': 'GRK5', 'score': 0.39}, {'connected_gene': 'GC10P119246', 'score': 0.34}]
chr10 GH10I119594 119594834 119598085 2.09 [{'connected_gene': 'TIAL1', 'score': 575.61}, {'connected_gene': 'LOC105378512', 'score': 550.77}, {'connected_gene': 'GC10P119597', 'score': 550.77}, {'connected_gene': 'SEC23IP', 'score': 24.02}, {'connected_gene': 'MCMBP', 'score': 21.86}, {'connected_gene': 'ENSG00000271353', 'score': 5.36}, {'connected_gene': 'RGS10', 'score': 4.96}]
chr10 GH10I120850 120850540 120852993 2.11 [{'connected_gene': 'WDR11', 'score': 628.14}, {'connected_gene': 'WDR11-AS1', 'score': 550.77}, {'connected_gene': 'SEC23IP', 'score': 28.64}, {'connected_gene': 'MCMBP', 'score': 9.77}, {'connected_gene': 'ENSG00000271670', 'score': 0.31}]
chr10 GH10I119848 119848125 119851265 0.38 [{'connected_gene': 'INPP5F', 'score': 20.17}, {'connected_gene': 'MCMBP', 'score': 17.99}, {'connected_gene': 'SEC23IP', 'score': 10.92}, {'connected_gene': 'BAG3', 'score': 10.5}, {'connected_gene': 'EIF3A', 'score': 9.16}, {'connected_gene': 'ENSG00000222588', 'score': 9.16}, {'connected_gene': 'SNORA19', 'score': 9.16}, {'connected_gene': 'ENSG00000282413', 'score': 0.29}]
chr10 GH10I119759 119759787 119762329 0.79 [{'connected_gene': 'INPP5F', 'score': 24.06}, {'connected_gene': 'MCMBP', 'score': 11.77}, {'connected_gene': 'SEC23IP', 'score': 10.84}, {'connected_gene': 'GC10P119759', 'score': 0.77}, {'connected_gene': 'RN7SL846P', 'score': 0.44}]
chr10 GH10I119783 119783358 119787606 1.46 [{'connected_gene': 'INPP5F', 'score': 27.79}, {'connected_gene': 'RPL17P36', 'score': 25.96}, {'connected_gene': 'SEC23IP', 'score': 23.41}, {'connected_gene': 'TIAL1', 'score': 16.98}, {'connected_gene': 'RPL21P16', 'score': 12.15}, {'connected_gene': 'TXNP1', 'score': 5.74}, {'connected_gene': 'RN7SL846P', 'score': 0.37}, {'connected_gene': 'GC10P119759', 'score': 0.31}, {'connected_gene': 'GC10M119816', 'score': 0.29}]
chr10 GH10I119677 119677923 119683217 1.26 [{'connected_gene': 'INPP5F', 'score': 18.97}, {'connected_gene': 'TIAL1', 'score': 17.51}, {'connected_gene': 'SEC23IP', 'score': 15.95}, {'connected_gene': 'MCMBP', 'score': 13.03}, {'connected_gene': 'RPL17P36', 'score': 10.74}, {'connected_gene': 'TXNP1', 'score': 8.67}, {'connected_gene': 'BAG3', 'score': 7.94}]
chr10 GH10I119895 119895013 119897849 1.02 [{'connected_gene': 'INPP5F', 'score': 8.92}, {'connected_gene': 'SEC23IP', 'score': 5.7}, {'connected_gene': 'MIR4682', 'score': 0.21}]
chr10 GH10I119164 119164206 119167264 2.02 [{'connected_gene': 'SFXN4', 'score': 560.01}, {'connected_gene': 'SEC23IP', 'score': 13.77}, {'connected_gene': 'RPL17P36', 'score': 13.11}, {'connected_gene': 'TIAL1', 'score': 11.44}, {'connected_gene': 'EIF3A', 'score': 10.88}, {'connected_gene': 'PRDX3', 'score': 0.39}]
chr10 GH10I119313 119313373 119320166 1.72 [{'connected_gene': 'SEC23IP', 'score': 27.76}, {'connected_gene': 'TIAL1', 'score': 21.84}, {'connected_gene': 'MCMBP', 'score': 14.29}, {'connected_gene': 'RPL17P36', 'score': 10.05}, {'connected_gene': 'LOC105378511', 'score': 0.37}, {'connected_gene': 'GC10P119246', 'score': 0.19}, {'connected_gene': 'GRK5', 'score': 0.14}]
chr10 GH10I119089 119089434 119092450 1.63 [{'connected_gene': 'SEC23IP', 'score': 23.85}, {'connected_gene': 'TIAL1', 'score': 13.1}, {'connected_gene': 'ENSG00000222588', 'score': 11.72}, {'connected_gene': 'SNORA19', 'score': 11.7}, {'connected_gene': 'NANOS1', 'score': 10.5}, {'connected_gene': 'ENSG00000271343', 'score': 0.77}, {'connected_gene': 'GC10P119080', 'score': 0.39}]
chr10 GH10I119859 119859509 119859658 0.59 [{'connected_gene': 'SEC23IP', 'score': 11.54}, {'connected_gene': 'INPP5F', 'score': 10.98}, {'connected_gene': 'BAG3', 'score': 10.37}, {'connected_gene': 'MCMBP', 'score': 0.29}, {'connected_gene': 'ENSG00000282413', 'score': 0.26}]
chr10 GH10I119919 119919452 119920442 0.58 [{'connected_gene': 'SEC23IP', 'score': 22.82}, {'connected_gene': 'INPP5F', 'score': 7.91}, {'connected_gene': 'MIR4682', 'score': 0.28}]
chr10 GH10I119312 119312929 119313078 0.9 [{'connected_gene': 'SEC23IP', 'score': 11.18}, {'connected_gene': 'LOC105378511', 'score': 0.34}, {'connected_gene': 'GC10P119246', 'score': 0.2}, {'connected_gene': 'GRK5', 'score': 0.14}]
chr10 GH10I119933 119933369 119933458 0.43 [{'connected_gene': 'SEC23IP', 'score': 10.05}, {'connected_gene': 'MIR4682', 'score': 0.31}]
chr10 GH10I119922 119922772 119922920 0.22 [{'connected_gene': 'SEC23IP', 'score': 11.15}, {'connected_gene': 'MIR4682', 'score': 0.28}]
chr10 GH10I119768 119768365 119771657 0.92 [{'connected_gene': 'RN7SL846P', 'score': 550.77}, {'connected_gene': 'INPP5F', 'score': 13.52}, {'connected_gene': 'SEC23IP', 'score': 10.93}, {'connected_gene': 'TXNP1', 'score': 6.37}, {'connected_gene': 'GC10P119759', 'score': 0.39}, {'connected_gene': 'GC10M119816', 'score': 0.25}]
chr10 GH10I119333 119333424 119338887 1.13 [{'connected_gene': 'LOC105378511', 'score': 550.77}, {'connected_gene': 'TIAL1', 'score': 17.4}, {'connected_gene': 'SEC23IP', 'score': 15.9}, {'connected_gene': 'RPL17P36', 'score': 14.56}, {'connected_gene': 'MCMBP', 'score': 12.98}, {'connected_gene': 'GC10P119246', 'score': 0.17}, {'connected_gene': 'GRK5', 'score': 0.13}]